OPA3 (Q18046643)

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protein-coding gene in the species Homo sapiens

MGA3
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPA3, outer mitochondrial membrane lipid metabolism regulator
OPA3 outer mitochondrial membrane lipid metabolism regulator
outer mitochondrial membrane lipid metabolism regulator OPA3

Language	Label	Description	Also known as
English	OPA3	protein-coding gene in the species Homo sapiens	MGA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) OPA3, outer mitochondrial membrane lipid metabolism regulator OPA3 outer mitochondrial membrane lipid metabolism regulator outer mitochondrial membrane lipid metabolism regulator OPA3

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000125741

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

Outer mitochondrial membrane lipid metabolism regulator OPA3

1 reference

6 July 2017

UniProt protein ID

genetic association

alcohol dependence

determination method or standard

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_0050741&ncbiId=80207

http://www.genome.gov/gwastudies/index.cfm?gene=OPA3

Genome-wide association study of comorbid depressive syndrome and alcohol dependence

25 May 2020

3-methylglutaconic aciduria type 3

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000125741/MONDO_0009787

based on heuristic

inferred from an Open Targets association score over 0.7

autosomal dominant optic atrophy and cataract

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000125741/MONDO_0008133

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000125741/Orphanet_67036

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 19

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

46030685

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

45527767

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

45602212

human chromosome 19

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

46105470

human chromosome 19

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

cytogenetic location

19q13.32

1 reference

15 May 2022

57022

1 reference

15 May 2022

Gene Atlas image

PBB GE OPA3 206357 at fs.png
732 × 530; 12 KB

0 references

2 references

HomoloGene build68

57022

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q9H6K4/

Drosophila melanogaster

1 reference

HomoloGene build68

57022

2 references

HomoloGene build68

57022

Orthologous MAtrix

https://omabrowser.org/oma/vps/Q9H6K4/

tendon of biceps brachii

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

muscle of thigh

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

gastrocnemius muscle

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

gingival epithelium

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

stromal cell of endometrium

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

buccal mucosa cell

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000125741

http://identifiers.org/ncbigene/80207

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000125741

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

Ensembl transcript ID

ENST00000544371

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

ENST00000263275

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

ENST00000323060

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000125741

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(5 entries)

arwiki OPA3
arzwiki OPA3
enwiki OPA3
ttwiki OPA3
ukwiki OPA3

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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